Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Huemer, Martina; Carvalho, Daniel; Brum, Jaime; Unal, ÖZLEM; COŞKUN, TURGAY; Weisfeld-Adams, James; Schrager, Nina; Scholl-Buergi, Sabine; Schlune, Andrea; Donner, Markus; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Haeberle, Johannes; Karall, Daniela

doi:10.1007/s10545-016-9928-y

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Atıf İçin Kopyala

Huemer M., Carvalho D. R. , Brum J. M. , Unal Ö. , COŞKUN T., Weisfeld-Adams J. D. , ...Daha Fazla

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.39, sa.3, ss.331-340, 2016 (SCI İndekslerine Giren Dergi)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 39 Konu: 3
Basım Tarihi: 2016
Doi Numarası: 10.1007/s10545-016-9928-y
Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
Sayfa Sayıları: ss.331-340

Özet

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.